rs13261248

Variant names:

• chr8-121501931-T-C
• rs13261248

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.487 in 152,104 control chromosomes in the GnomAD database, including 22,308 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.49 (22308 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.318

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.859 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.487 AC: 73948 AN: 151986 Hom.: 22252 Cov.: 32

Gnomad AFR AF: 0.866

Gnomad AMI AF: 0.395

Gnomad AMR AF: 0.404

Gnomad ASJ AF: 0.409

Gnomad EAS AF: 0.273

Gnomad SAS AF: 0.436

Gnomad FIN AF: 0.284

Gnomad MID AF: 0.453

Gnomad NFE AF: 0.332

Gnomad OTH AF: 0.450

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.487 AC: 74047 AN: 152104 Hom.: 22308 Cov.: 32 AF XY: 0.481 AC XY: 35750 AN XY: 74354

Gnomad4 AFR AF: 0.866

Gnomad4 AMR AF: 0.403

Gnomad4 ASJ AF: 0.409

Gnomad4 EAS AF: 0.273

Gnomad4 SAS AF: 0.435

Gnomad4 FIN AF: 0.284

Gnomad4 NFE AF: 0.332

Gnomad4 OTH AF: 0.444

Alfa AF: 0.357 Hom.: 8725

Bravo AF: 0.507

Asia WGS AF: 0.372 AC: 1297 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.68
DANN	Benign	0.64

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs13261248; hg19: chr8-122514171;